Neuroacanthocytosis: a rare inherited movement disorder.
The chorea-acanthocytosis syndrome (CHAC) is a rare disorder beginning in late adolescent or adult life in association with acanthocytosis, a normal lipid profile and characterized by progressive neurological disease. The inheritance is usually autosomal recessive, although apparent sporadic and autosomal dominant instances are also known. We report here a young man who presented with choreo-athetoid movement, dystonia, tics, symmetrical axonal polyneuropathy with normal cognitive function. The subsequent peripheral blood film reveals acanthocytes > 5%. Diagnosis of neuroacanthocytosis was made.
Looi
I
I
Department of Medicine, Penang Hospital, Kuala Lumpur.
Eow
G B
GB
Norlia
A M
AM
Santhi
D P
DP
D000328:Adult; D006801:Humans; D008297:Male; D054546:Neuroacanthocytosis / Q000175:diagnosis*